TTN


Summary: This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Nametitin
OMIM IDMIM:188840
PHARMGKB IDPA37067
Map Location2q31.2

GO terms in TTN


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IPI GO:0002020 protease binding
MF IDA GO:0004674 protein serine/threonine kinase activity
MF IDA GO:0004713 protein tyrosine kinase activity
MF IDA GO:0005509 calcium ion binding
MF IPI GO:0005515 protein binding
MF IPI GO:0005516 calmodulin binding
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Gene expression in normal tissue: TTN

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TTN


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Database
Pathway ID
Pathway Des.
reactome R-HSA-109582 Hemostasis
reactome R-HSA-114608 Platelet degranulation
reactome R-HSA-390522 Striated Muscle Contraction
reactome R-HSA-397014 Muscle contraction
reactome R-HSA-76002 Platelet activation, signaling and aggregation
reactome R-HSA-76005 Response to elevated platelet cytosolic Ca2+
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD1008 SR-II-138A 2
iGMDRD420 Leucascandrolide A 4
iGMDRD210 AC55649 1
iGMDRD151 CHM-1 4
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TTN

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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